相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Rare Autosomal Dominant POLG1 Mutation in a Family With Metabolic Strokes, Posterior Column Spinal Degeneration, and Multi-Endocrine Disease
Sarah E. Hopkins et al.
JOURNAL OF CHILD NEUROLOGY (2010)
POLG, but not PEO1, is a Frequent Cause of Cerebellar Ataxia in Central Europe
Julia Schicks et al.
MOVEMENT DISORDERS (2010)
SENSORY ATAXIC NEUROPATHY WITH DYSARTHRIA AND OPHTHALMOPARESIS (SANDO) IN LATE LIFE DUE TO COMPOUND HETEROZYGOUS POLG MUTATIONS
Michael D. Weiss et al.
MUSCLE & NERVE (2010)
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children
J. D. Stewart et al.
JOURNAL OF MEDICAL GENETICS (2009)
A variable neurodegenerative phenotype with polymerase gamma mutation
S. Stricker et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2009)
ATAXIA WITH OPHTHALMOPLEGIA OR SENSORY NEUROPATHY IS FREQUENTLY CAUSED BY POLG MUTATIONS
Claudia Schulte et al.
NEUROLOGY (2009)
Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement
J. Betts et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2006)
SANDO: Two novel mutations in POLG1 gene
Miguel Fernandes Gago et al.
NEUROMUSCULAR DISORDERS (2006)
The spectrum of clinical disease caused by the A467T and W748SPOLG mutations:: a study of 26 cases
Charalampos Tzoulis et al.
BRAIN (2006)
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
Rita Horvath et al.
BRAIN (2006)
Mitochondrial DNA polymerase W748S mutation:: A common cause of autosomal recessive ataxia with ancient European origin
AH Hakonen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations
S Winterthun et al.
NEUROLOGY (2005)
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
G Van Goethem et al.
NEUROLOGY (2004)
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
RK Naviaux et al.
ANNALS OF NEUROLOGY (2004)
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase γ
M Filosto et al.
ARCHIVES OF NEUROLOGY (2003)
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
G Van Goethem et al.
NEUROMUSCULAR DISORDERS (2003)
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR
LP He et al.
NUCLEIC ACIDS RESEARCH (2002)
Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family
M Rantamäki et al.
NEUROLOGY (2001)
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
G Van Goethem et al.
NATURE GENETICS (2001)
Neuropathological and histochemical changes in a multiple mitochondrial DNA deletion disorder
DA Cottrell et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2000)